A case of Noonan syndrome with severe blepharophimosis / 中华整形外科杂志

ABSTRACT

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, congenital heart disease, short stature, developmental delay, and bleeding diculties. This paper reports a rare Noonan syndrome child who presented chiefly to our institution with severe blepharophimosis. After DAN whole exome sequencing analysis, the patient was diagnosed with the PTPN11 gene c. 1517C> T mutation.